Canonical Allele Identifier: CA4715949
Gene: DDHD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38234543A>G , CM000670.2:g.38234543A>G GRCh38
NC_000008.10:g.38092061A>G , CM000670.1:g.38092061A>G GRCh37
NC_000008.9:g.38211218A>G NCBI36
NG_033875.1:g.8053A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000397166.7:c.370A>G MANE Select ENSP00000380352.2:p.Lys124Glu
ENST00000397166.6:c.370A>G ENSP00000380352.2:p.Lys124Glu
ENST00000519857.5:n.567A>G
ENST00000520272.6:c.370A>G ENSP00000429932.2:p.Lys124Glu
ENST00000526237.5:c.220+1329A>G ENSP00000436994.1:n.220+1329A>G
ENST00000526370.1:n.490+33A>G
ENST00000527415.5:c.280A>G ENSP00000432024.1:p.Lys94Glu
ENST00000527834.5:c.370A>G ENSP00000432433.1:p.Lys124Glu
ENST00000528358.5:c.364A>G ENSP00000433118.1:p.Lys122Glu
ENST00000529642.1:c.82A>G ENSP00000436444.1:p.Lys28Glu
ENST00000532222.5:c.370A>G ENSP00000433578.1:p.Lys124Glu
ENST00000533100.5:c.370A>G ENSP00000432678.1:p.Lys124Glu
NM_001164232.1:c.370A>G NP_001157704.1:p.Lys124Glu
NM_001164234.1:c.370A>G NP_001157706.1:p.Lys124Glu
NM_015214.2:c.370A>G NP_056029.2:p.Lys124Glu
XM_005273454.1:c.370A>G XP_005273511.1:p.Lys124Glu
XM_005273455.2:c.370A>G XP_005273512.1:p.Lys124Glu
XM_005273456.2:c.370A>G XP_005273513.1:p.Lys124Glu
XM_011544455.1:c.370A>G XP_011542757.1:p.Lys124Glu
XM_011544456.1:c.370A>G XP_011542758.1:p.Lys124Glu
XR_247123.1:n.895A>G
XR_949383.1:n.895A>G
XR_949384.1:n.895A>G
XR_949385.1:n.895A>G
XR_949386.1:n.895A>G
XR_949387.1:n.895A>G
NM_001362911.1:c.370A>G NP_001349840.1:p.Lys124Glu
NM_001362912.1:c.370A>G NP_001349841.1:p.Lys124Glu
NM_001362913.1:c.370A>G NP_001349842.1:p.Lys124Glu
NM_001362914.1:c.370A>G NP_001349843.1:p.Lys124Glu
NR_156416.1:n.747A>G
NR_156417.1:n.747A>G
XM_011544456.2:c.370A>G XP_011542758.1:p.Lys124Glu
XM_017013255.2:c.-616A>G XP_016868744.1:n.-616A>G
XR_001745504.2:n.653A>G
XR_001745506.2:n.653A>G
NM_001362911.2:c.370A>G NP_001349840.1:p.Lys124Glu
NM_001362912.2:c.370A>G NP_001349841.1:p.Lys124Glu
NM_015214.3:c.370A>G MANE Select NP_056029.2:p.Lys124Glu
NR_156417.2:n.653A>G
NM_001164232.2:c.370A>G NP_001157704.1:p.Lys124Glu
NM_001164234.2:c.370A>G NP_001157706.1:p.Lys124Glu
NM_001362913.2:c.370A>G NP_001349842.1:p.Lys124Glu
NM_001362914.2:c.370A>G NP_001349843.1:p.Lys124Glu
NR_156416.2:n.653A>G